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Quality control standards in PGD and PGS

SenGupta, SB; Dhanjal, S; Harper, JC; (2016) Quality control standards in PGD and PGS. Reproductive BioMedicine Online , 32 (3) pp. 263-270. 10.1016/j.rbmo.2015.11.020. Green open access

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Abstract

Preimplantation genetic diagnosis (PGD) aims to test the embryo for specific conditions before implantation in couples at risk of transmitting genetic abnormality to their offspring. The couple must undergo IVF procedures to generate embryos in vitro. The embryos can be biopsied at either the zygote, cleavage or blastocyst stage. Preimplantation genetic screening uses the same technology to screen for chromosome abnormalities in embryos from patients undergoing IVF procedures as a method of embryo selection. Fluorescence in-situ hybridization was originally used for chromosome analysis, but has now been replaced by array comparative genomic hybridization or next generation sequencing. For the diagnosis of single gene defects, polymerase chain reaction is used and has become highly developed; however, single nucleotide polymorphism arrays for karyomapping have recently been introduced. A partnership between IVF laboratories and diagnostic centres is required to carry out PGD and preimplantation genetic screening. Accreditation of PGD diagnostic laboratories is important. Accreditation gives IVF centres an assurance that the diagnostic tests conform to specified standards. ISO 15189 is an international laboratory standard specific for medical laboratories. A requirement for accreditation is to participate in external quality assessment schemes.

Type: Article
Title: Quality control standards in PGD and PGS
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.rbmo.2015.11.020
Publisher version: http://dx.doi.org/10.1016/j.rbmo.2015.11.020
Language: English
Additional information: Copyright © 2016. This manuscript version is published under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International licence (CC BY-NC-ND 4.0). This licence allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licences are available at http://creativecommons.org/licenses/by/4.0. Access may be initially restricted by the publisher.
Keywords: Science & Technology, Life Sciences & Biomedicine, Obstetrics & Gynecology, Reproductive Biology, chromosomal abnormality, embryo, preimplantation genetic diagnosis, preimplantation genetic screening, quality control, single gene disorder, Preimplantation Genetic Diagnosis, In-situ Hybridization, Eshre Pgd, Practice Guidelines, Human Embryos, Trophectoderm Biopsy, Data-collection, Consortium, Cycles, Amplification
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Reproductive Health
URI: https://discovery.ucl.ac.uk/id/eprint/1483413
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